| pubmed-article:8650226 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8650226 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:8650226 | lifeskim:mentions | umls-concept:C0026706 | lld:lifeskim |
| pubmed-article:8650226 | lifeskim:mentions | umls-concept:C1853126 | lld:lifeskim |
| pubmed-article:8650226 | pubmed:issue | 12 | lld:pubmed |
| pubmed-article:8650226 | pubmed:dateCreated | 1996-7-25 | lld:pubmed |
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| pubmed-article:8650226 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8650226 | pubmed:abstractText | The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Cloning started with purification of the bovine enzyme and use of a conserved oligonucleotide sequence to probe a human cDNA library. The cDNA sequence was found to encode a protein of 743 amino acids, with a 20- to 23-aa signal peptide immediately preceding the amino terminus of the tissue enzyme and with six potential N-glycosylation sites. The 8.5-kb gene (NAGLU), interrupted by 5 introns, was localized to the 5'-flanking sequence of a known gene, EDH17B, on chromosome 17q21. Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H. The occurrence of a frameshift and a nonsense mutation in homozygous form confirms the identity of the NAGLU gene. | lld:pubmed |
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| pubmed-article:8650226 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8650226 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8650226 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8650226 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8650226 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:8650226 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:8650226 | pubmed:author | pubmed-author:NeufeldE FEF | lld:pubmed |
| pubmed-article:8650226 | pubmed:author | pubmed-author:BachGG | lld:pubmed |
| pubmed-article:8650226 | pubmed:author | pubmed-author:LiH HHH | lld:pubmed |
| pubmed-article:8650226 | pubmed:author | pubmed-author:ZhaoH GHG | lld:pubmed |
| pubmed-article:8650226 | pubmed:author | pubmed-author:SchmidtchenAA | lld:pubmed |
| pubmed-article:8650226 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8650226 | pubmed:day | 11 | lld:pubmed |
| pubmed-article:8650226 | pubmed:volume | 93 | lld:pubmed |
| pubmed-article:8650226 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8650226 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8650226 | pubmed:pagination | 6101-5 | lld:pubmed |
| pubmed-article:8650226 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8650226 | pubmed:meshHeading | pubmed-meshheading:8650226-... | lld:pubmed |
| pubmed-article:8650226 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8650226 | pubmed:articleTitle | The molecular basis of Sanfilippo syndrome type B. | lld:pubmed |
| pubmed-article:8650226 | pubmed:affiliation | Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA. | lld:pubmed |
| pubmed-article:8650226 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8650226 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8650226 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:4669 | entrezgene:pubmed | pubmed-article:8650226 | lld:entrezgene |
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